Peripheral nerve excitability abnormalities in Neuronal Intranuclear Inclusion Disease: Assessment with histopathological analysis.

IF 3.7 3区医学 Q1 CLINICAL NEUROLOGY

Clinical Neurophysiology Pub Date : 2024-12-14 DOI:10.1016/j.clinph.2024.12.013

Yusuke Osaki, Hiroyuki Nodera, Ryota Sato, Shotaro Haji, Koji Fujita, Ryosuke Miyamoto, Kohei Muto, Hiroki Yamazaki, Hiroyuki Morino, Takashi Kanda, Shigeo Murayama, Ryuji Kaji, Yuishin Izumi

{"title":"Peripheral nerve excitability abnormalities in Neuronal Intranuclear Inclusion Disease: Assessment with histopathological analysis.","authors":"Yusuke Osaki, Hiroyuki Nodera, Ryota Sato, Shotaro Haji, Koji Fujita, Ryosuke Miyamoto, Kohei Muto, Hiroki Yamazaki, Hiroyuki Morino, Takashi Kanda, Shigeo Murayama, Ryuji Kaji, Yuishin Izumi","doi":"10.1016/j.clinph.2024.12.013","DOIUrl":null,"url":null,"abstract":"Objective: Neuronal Intranuclear Inclusion Disease (NIID) is a neurodegenerative disease affecting the central and peripheral nerves. We aimed to assess the pathophysiological features of peripheral nerve dysfunction in NIID.Methods: We observed six unrelated NIID patients through clinical records, nerve conduction studies, and multiple measures of motor nerve excitability. Additionally, we reviewed one NIID patientt who underwent a nerve biopsy. Control measures were obtained from 22 age-matched normal subjects.Results: The NIID patients exhibited mild conduction slowing and distinct nerve excitability abnormalities, including a significant decrease in excitability through hyperpolarizing threshold electrotonus (TE) and increased overshoots in both depolarizing and hyperpolarizing conditions. Histopathology revealed thinly myelinated fibers and axonal degeneration. Mathematical modeling suggested that reduced leak conductance was the key factor contributing to the observed excitability changes.Conclusions: The findings indicate that NIID involves a complex interplay of axonal degeneration and myelin dysfunction, leading to unique peripheral nerve excitability changes. These results provide new insights into the pathophysiology of NIID.Significance: Nerve excitability testing offers insight into particular axonal excitability abnormalities especially combined with histopathologic studies.","PeriodicalId":10671,"journal":{"name":"Clinical Neurophysiology","volume":"170 ","pages":"156-167"},"PeriodicalIF":3.7000,"publicationDate":"2024-12-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical Neurophysiology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1016/j.clinph.2024.12.013","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}

引用次数: 0

Abstract

Objective: Neuronal Intranuclear Inclusion Disease (NIID) is a neurodegenerative disease affecting the central and peripheral nerves. We aimed to assess the pathophysiological features of peripheral nerve dysfunction in NIID.

Methods: We observed six unrelated NIID patients through clinical records, nerve conduction studies, and multiple measures of motor nerve excitability. Additionally, we reviewed one NIID patientt who underwent a nerve biopsy. Control measures were obtained from 22 age-matched normal subjects.

Results: The NIID patients exhibited mild conduction slowing and distinct nerve excitability abnormalities, including a significant decrease in excitability through hyperpolarizing threshold electrotonus (TE) and increased overshoots in both depolarizing and hyperpolarizing conditions. Histopathology revealed thinly myelinated fibers and axonal degeneration. Mathematical modeling suggested that reduced leak conductance was the key factor contributing to the observed excitability changes.

Conclusions: The findings indicate that NIID involves a complex interplay of axonal degeneration and myelin dysfunction, leading to unique peripheral nerve excitability changes. These results provide new insights into the pathophysiology of NIID.

Significance: Nerve excitability testing offers insight into particular axonal excitability abnormalities especially combined with histopathologic studies.

查看原文本刊更多论文

求助全文

约1分钟内获得全文求助全文

来源期刊

Clinical Neurophysiology 医学-临床神经学

CiteScore

8.70

自引率

6.40%

发文量

932

审稿时长

59 days

期刊介绍： As of January 1999, The journal Electroencephalography and Clinical Neurophysiology, and its two sections Electromyography and Motor Control and Evoked Potentials have amalgamated to become this journal - Clinical Neurophysiology. Clinical Neurophysiology is the official journal of the International Federation of Clinical Neurophysiology, the Brazilian Society of Clinical Neurophysiology, the Czech Society of Clinical Neurophysiology, the Italian Clinical Neurophysiology Society and the International Society of Intraoperative Neurophysiology.The journal is dedicated to fostering research and disseminating information on all aspects of both normal and abnormal functioning of the nervous system. The key aim of the publication is to disseminate scholarly reports on the pathophysiology underlying diseases of the central and peripheral nervous system of human patients. Clinical trials that use neurophysiological measures to document change are encouraged, as are manuscripts reporting data on integrated neuroimaging of central nervous function including, but not limited to, functional MRI, MEG, EEG, PET and other neuroimaging modalities.